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Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features. Researchers have suggested the features are caused by disruption of at least four genes.
Source: GARD Last updated on 05-01-20
It is difficult to predict the long-term outlook for children with 1q4 deletions because in many cases, this chromosome disorder has been diagnosed with certainty in recent years, and very few adults with the condition have described. It is generally expected that most children will need lifelong care and medical support. Furthermore, prognosis and life expectancy varies with each individual, based on both how mildly or severely affected the individual is, and which signs and symptoms are present.
Last updated on 05-01-20
Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 1q4 deletions.
Last updated on 04-27-20
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